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Positive selection of a gene family during the emergence of humans and African apes

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  1. Article

    Open Access

    Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms

    Genes act in concert with each other in specific contexts to perform their functions. Determining how these genes influence complex traits requires a mechanistic understanding of expression regulation across d...

    Milton Pividori, Sumei Lu, Binglan Li, Chun Su, Matthew E. Johnson in Nature Communications (2023)

  2. Article

    Open Access

    Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene map** of relevant complex traits

    The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine systems. Given its role governing key traits, such as body weight and reproductive timing, understanding the genetic regul...

    Matthew C. Pahl, Claudia A. Doege, Kenyaita M. Hodge in Nature Communications (2021)

  3. Article

    Open Access

    Identification of 22 susceptibility loci associated with testicular germ cell tumors

    Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with ...

    John Pluta, Louise C. Pyle, Kevin T. Nead, Rona Wilf, Mingyao Li in Nature Communications (2021)

  4. Article

    Open Access

    Map** effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells

    Systemic lupus erythematosus (SLE) is mediated by autoreactive antibodies that damage multiple tissues. Genome-wide association studies (GWAS) link >60 loci with SLE risk, but the causal variants and effector ...

    Chun Su, Matthew E. Johnson, Annabel Torres, Rajan M. Thomas in Nature Communications (2020)

  5. Article

    Open Access

    Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density

    Osteoporosis is a devastating disease with an essential genetic component. GWAS have discovered genetic signals robustly associated with bone mineral density (BMD), but not the precise localization of effector...

    Alessandra Chesi, Yadav Wagley, Matthew E. Johnson in Nature Communications (2019)